PHGDH : phosphoglycerate dehydrogenase
Description
The PHGDH (phosphoglycerate dehydrogenase) is a protein-coding gene located on chromosome 1.
The PHGDH gene provides instructions for creating the subunits of the phosphoglycerate dehydrogenase enzyme. This enzyme, formed by four PHGDH subunits, is crucial for producing serine, an amino acid essential for brain and spinal cord development and function. Serine contributes to neurotransmitter synthesis and forms part of cell membranes and myelin, the fatty layer insulating many nerves. While serine can be obtained from the diet, brain cells must produce their own serine as dietary serine cannot cross the blood-brain barrier.
PHGDH catalyzes the reversible conversion of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, initiating the phosphorylated L-serine biosynthesis pathway. Additionally, it facilitates the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and (S)-malate to oxaloacetate.
PHGDH is also known as 3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA.
Associated Diseases
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- Phosphoglycerate dehydrogenase deficiency
- Neu-Laxova syndrome 1
